Tandem duplications of two separate fragments of the dystrophin gene in a patient with Duchenne muscular dystrophy
スポンサーリンク
概要
- 論文の詳細を見る
- Springer Japanの論文
- 2008-03-01
著者
-
TAKESHIMA Yasuhiro
Department of Pediatrics, Graduate School of Medicine, Kobe University
-
MATSUO Masafumi
Department of Pediatrics, Graduate School of Medicine, Kobe University
-
Matsuo M
Department Of Pediatrics Graduate School Of Medicine Kobe University
-
Awano Hiroyuki
Department Of Pediatrics Graduate School Of Medicine Kobe University
-
Miyamoto Masaki
Second Department Of Internal Medicine Kobe University School Of Medicine
-
YAGI Mariko
Department of Clinical Evaluation of Pharmacotherapy, Kobe University Graduate School of Medicine
-
Yagami Tatsurou
2shionogi Research Laboratories Shionogi & Co. Ltd.
-
Yamamori Motohiro
Kobe Univ. Hospital Kobe Jpn
-
Yamamori Motohiro
Department Of Hospital Pharmacy Kobe University Hospital
-
Yokoyama T
Kyoto Pharmaceutical Univ. Kyoto Jpn
-
Takeshima Yasuhiro
Department Of Pediatrics Kobe University Graduate School Of Medicine
-
Matsuo Masafumi
Department Of Pediatrics Graduate School Of Medicine Kobe University
-
ZHANG Zhujun
Department of Pediatrics, Graduate School of Medicine Kobe University
-
NISHIYAMA Atsushi
Department of Pediatrics, Graduate School of Medicine Kobe University
-
OKIZUKA Yo
Department of Pediatrics, Graduate School of Medicine Kobe University
-
Zhang Zhujun
Department Of Chemistry Analytical Science Institute Southwest China Normal University
-
Nishiyama Atsushi
Department Of Pediatrics Graduate School Of Medicine Kobe University
-
Nishiyama Atsushi
Department Of Internal Medicine Ise-keio Hospital Keio University
-
Matsuo M
Division Of Genetics International Center For Medical Research Kobe University School Of Medicine
-
Mizutori Masakazu
Department Of Pediatrics Graduate School Of Medicine Kobe University
-
八木 麻理子
Department of Clinical Evaluation of Pharmacotherapy, Kobe University Graduate School of Medicine
-
八木 麻理子
Department Of Clinical Evaluation Of Pharmacotherapy Kobe University Graduate School Of Medicine
-
Nishiyama Atsushi
Department Of Anesthesiology And Critical Care Medicine Kagoshima University School Of Medicine
-
Yamasaki Takemi
Hyogo Prefectural Children's Hospital
-
Okizuka Yo
Department Of Clinical Evaluation Of Pediatrics Kobe University Graduate School Of Medicine
-
Yamamori Motohiro
Department Of Clinical Pharmacy School Of Pharmacy And Pharmaceutical Sciences Mukogawa Women's
-
Takeshima Y
Hyogo Prefectural Children's Hospital
-
Takeshima Yasuhiro
神戸大学 医学研究科小児科学
-
Zhang Zhujun
Department Of Pediatrics Kobe University Graduate School Of Medicine
-
MATSUO Masafumi
Department of Medical Rehabilitation, Faculty of Rehabilitation, Kobegakuin University
-
TAKESHIMA Yasuhiro
Department of Neurosurgery, Nara Medical University
-
Takeshima Yasuhiro
Department of Hematology and Oncology, Hyogo Children's Hospital
関連論文
- Novel Mutations in 21 Patients with Tuberous Sclerosis Complex and Variation of Tandem Splice-acceptor Sites in TSC1 exon 14
- ベトナム人脊髄性筋萎縮症患者におけるSMN2遺伝子量ならびにNAIP遺伝子量について
- Clinical Types, Molecular Genetic Diagnosis & Genetic : clinical Correlation in Patients with Spinal Muscular Atrophy
- Deletion of the SMN1 and NAIP Genes in Vietnamese Patients with Spinal Muscular Atrophy
- Effects of 19 Herbal Extracts on the Sensitivity to Paclitaxel or 5-Fluorouracil in HeLa Cells(Biopharmacy)
- 全国調査における典型的溶血性尿毒症症候群の重症化因子の検討
- Association of Cumulative Cyclosporine Dose with Its Irreversible Nephrotoxicity in Japanese Patients with Pediatric-Onset Autoimmune Diseases(Biopharmacy)
- 志賀毒素を介さず発症した溶血性尿毒症症候群5症例の予後と腎組織像に関する検討
- A novel mutation in KCNJ1 in a Bartter syndrome case diagnosed as pseudohypoaldosteronism
- 小児SLE患者に対する高用量ミゾリビン投与の試み
- Prediction of systemic exposure to cyclosporine in Japanese pediatric patients
- Rituximab treatment for posttransplant lymphoproliferative disorder (PTLD) induces complete remission of recurrent nephrotic syndrome
- The effect of aldosterone blockade in patients with Alport syndrome
- Pharmacokinetics-based optimal dose-exploration of mycophenolate mofetil in allogeneic hematopoietic stem cell transplantation
- Molecular Diagnosis, Correlation of Clinical and Deletion Data in Duchenne Muscular Dystrophy
- Reversal Effects of Ca2+ Antagonists on Multidrug Resistance via Down-regulation of MDR1 mRNA
- Three-Dimensional, but not Two-Dimensional, Culture Results in Tumor Growth Enhancement after Exposure to Anticancer Drugs
- Effect of Rabeprazole on MDR1-Mediated Transport of Rhodamine 123 in Caco-2 and Hvr100-6 Cells(Biopharmacy)
- Effects of Reactive Oxygen Species on Cell Proliferation and Death in HeLa Cells and Its MDR1-Overexpressing Derivative Cell Line
- Effects of carvedilol on MDR1-mediated multidrug resistance : comparison with verapamil
- Effects of St John's Wort and Hypericin on Cytotoxicity of Anticancer Drugs
- Cytotoxic Effects of 27 Anticancer Drugs in HeLa and MDR1-Overexpressing Derivative Cell Lines
- IL-1β Genotype-Related Effect of Prednisolone on IL-1β Production in Human Peripheral Blood Mononuclear Cells under Acute Inflammation(Pharmacology)
- Genetic polymorphisms associated with adverse events and elimination of methotrexate in childhood acute lymphoblastic leukemia and malignant lymphoma
- A 2-bp deletion in exon 74 of the dystrophin gene does not clearly induce muscle weakness
- Effects of Polymorphisms of MDR1, MRP1, and MRP2 Genes on Their mRNA Expression Levels in Duodenal Enterocytes of Healthy Japanese Subjects(Biopharmacy)
- Studies on Interactions between Functional Foods or Dietary Supplements and Medicines. III. Effects of Ginkgo biloba Leaf Extract on the Pharmacokinetics of Nifedipine in Rats(Biopharmacy)
- Studies on Interactions between Functional Foods or Dietary Supplements and Medicines. I. Effects of Ginkgo biloba Leaf Extract on the Pharmacokinetics of Diltiazem in Rats(Biopharmacy)
- Studies on Interactions between Traditional Herbal and Western Medicines.V. Effects of Sho-saiko-to (Xiao-Cai-hu-Tang) on the Pharmacokinetics of Carbamazepine in Rats
- Studies on interactions between traditional herbal and Western medicines. III. Effects of Sho-seiryu-to (Tin Chuan Tang) on the pharmacokinetics of phenytoin in rats
- The C677T Mutation in the Methylenetetrahydrofolate Reductase Gene among the Indonesian Javanese Population
- HnRNP C1/C2 May Regulate Exon 7 Splicing in the Spinal Muscular Atrophy Gene SMN1
- 良性家族性新生児痙攣を有する日本人一家系内の生殖細胞に生じたKCNQ2遺伝子変異(p. R213W)
- A Strong Exonic Splicing Enhancer in Dystrophin Exon 19 Achieve Proper Splicing Without an Upstream Polypyrimidine Tract
- Tandem duplications of two separate fragments of the dystrophin gene in a patient with Duchenne muscular dystrophy
- Ureaplasma urealyticum and Mycoplasma hominis Presence in Umbilical Cord is Associated with Pathogenesis of Funisitis
- Mutation Analysis of the Ornithine Transcarbamylase (OTC) Gene in Five Japanese OTC Deficiency Patients Revealed Two Known and Three Novel Mutations Including a Deep Intronic Mutation
- Mosaic Tetrasomy 9p Case with the Phenotype Mimicking Klinefelter Syndrome and Hyporesponse of Gonadotropin-Stimulated Testosterone Production
- 日本人のSMN1遺伝子上にC117T多型を見出した
- Quantification of lysophosphatidylcholines and phosphatidylcholines using liquid chromatography-tandem mass spectrometry in neonatal serum
- Evaluation of mutation effects on UGT1A1 activity toward 17β-estradiol using liquid chromatography-tandem mass spectrometry
- Molecular Heterogeneity of Glucose-6-Phosphate Dehydrogenase Deficiency in Vietnam
- Nobel cryptic exons identified in introns 2 and 3 of the human dystrophin gene with duplication of exons 8-11
- Studies on Interactions between Functional Foods or Dietary Supplements and Medicines. IV. Effects of Ginkgo biloba Leaf Extract on the Pharmacokinetics and Pharmacodynamics of Nifedipine in Healthy Volunteers(Biopharmacy)
- Up-Regulation of MDR1 Function and Expression by Cisplatin in LLC-PK_1 Cells
- Contribution of the Nucleoside Transport System to Doxorubicin Transport in HL60 Cells but Not in Mononuclear Cells
- Membrane Transport and Antitumor Activity of Pirarubicin, and Comparison with Those of Doxorubicin
- Studies on Interactions between Traditional Herbal and Western Medicines. I. Effects of Sho-seiryu-to on the Pharmacokinetics of Carbamazepine in Rats
- Possibility of Contribution of Nucleoside Transport Systems to Pirarubicin Uptake by HL60 Cells but Not Mononuclear Cells
- Inhibitory Effects of Ticlopidine and Dilazep on Serum-Induced DNA Synthesis in Cultured Rat Renal Mesangial Cells
- Pharmacokinetic Interaction between Theophylline and Propentofylline in Rats
- Transport Mechanism of Pirarubicin in Human Mononuclear Cells
- Transport Mechanisms of Anthracycline Derivatives in Human Leukemia Cell Lines : Uptake of Pirarubicin, Daunorubicin and Doxorubicin by K562 and Multidrug-Resistant K562/ADM Cell
- Transport Mechanism of Anthracycline Derivatives in Human Leukemia Cell Lines : Uptake and Efflux of Daunorubicin and Doxorubicin in HL60 and Its Resistant Cells and Comparison with Those of Pirarubicin
- Pharmacokinetics of Pirarubicin in Pediatric Patients
- Pharmacokinetics of Zonisamide ; Saturable Distribution into Human and Rat Erythrocytes and into Rat Brain
- Screening for G71R mutation of the UGT1A1 gene in the Javanese-Indonesian and Malay-Malaysian populations
- インドネシア東ジャワ地方の前頭骨篩骨脳瘤患者にMTHFR遺伝子のC677T変異は認められなかった
- ACE Gene Polymorphism in Children with Nephrotic Syndrome in the Indonesian Population
- HILA-DQB1 locus and the development of atrophic gastritis with Helicobacter pylori infection
- Molecular and Pharmacokinetic Properties of 222 Commercially Available Oral Drugs in Humans
- Comparative study on deletions of the dystrophin gene in three Asian populations
- Screening for glucose-6-phosphate dehydrogenase deficiency using a modified formazan method : A pilot study on Filipino male newborns
- Molecular Heterogeneity of Glucose-6-Phosphate Dehydrogenase Deficiency in Malays in Malaysia
- Activation of C-Kinase η through Its Cholesterol-3-sulfate-Dependent Phosphorylation by Casein Kinase I in Vitro(Biochemistry/Molecular Biology)
- Characterization of (-)-Matairesinol as a Potent Inhibitor of Casein Kinase I in Vitro
- A novel cryptic exon in intron 3 of the dystrophin gene was incorporated into dystrophin mRNA with a single nucleotide deletion in exon 5
- Oligonucleotides against a splicing enhancer sequence led to dystrophin production in muscle cells from a Duchenne muscular dystrophy patient
- Non-homologous recombination between Alu and LINE-1 repeats caused a 430-kb deletion in the dystrophin gene : a novel source of genomic instability
- A simple explanation for a case of incompatibility with the reading frame theory in Duchenne muscular dystrophy: failure to detect an aberrant restriction fragment in Southern blot analysis
- Severe neonatal nemaline myopathy with delayed maturation of muscle
- Maple Syrup Urine Disease : from the Clinics to the Lab and back to the Clinics
- Poor correlation between hemolysis and jaundice in glucose 6-phosphate dehydrogenase-deficient babies
- PDGF-alpha Receptor Expression Following Hypoxic-Ischemic Injury in the Neonatal Rat Brain
- Mutational Spectrum of MSUD in the Philippines
- Intraperitoneal administration of phosphorothioate antisense oligodeoxynucleotide against splicing enhancer sequence induced exon skipping in dystrophin mRNA expressed in mdx skeletal muscle
- Molecular Analysis of TSC2/PKD1 Contiguous Gene Deletion Syndrome
- Enhancing Effect of an Acetone Extract of Zingiberis rhizoma on Rectal Absorption of Mefenamic Acid in Rats
- A novel approach to identify Duchenne muscular dystrophy patients for aminoglycoside antibiotics therapy
- Ligand orientation governs conjugation capacity of UDP-glucuronosyltransferase 1A1
- Ticlopidine Inhibits Activation of Mitogen-Activated Protein Kinase by Platelet-Derived Growth Factor in Cultured Rat Renal Mesangial Cells
- Transport Mechanisms of Idarubicin, an Anthracycline Derivative, in Human Leukemia HL60 Cells and Mononuclear Cells, and Comparison with Those of Its Analogs
- バルプロ酸誘発高アンモニア血症に対するCPS1 4217C>A遺伝子多型の影響
- Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy
- 先天性全身性脂肪萎縮症の2乳児例
- A surviving case of papillorenal syndrome with the phenotype of Potter sequence
- Pharmacokinetics-based optimal dose prediction of donor source-dependent response to mycophenolate mofetil in unrelated hematopoietic cell transplantation
- Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies
- Epigallocatechin gallate inhibits sphere formation of neuroblastoma BE(2)-C cells
- Contemporary retrotransposition of a novel non-coding gene induces exon-skipping in dystrophin mRNA
- Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center
- Insertion of the IL1RAPL1 gene into the duplication junction of the dystrophin gene
- Mycophenolate mofetil : fully utilizing its benefits for GvHD prophylaxis
- Valproic acid increases SMN2 expression and modulates SF2/ASF and hnRNPA1 expression in SMA fibroblast cell lines
- A Homozygous Mutation in UGT1A1 Exon 5 May Be Responsible for Persistent Hyperbilirubinemia in a Japanese Girl with Gilbert's Syndrome
- Utility of Multiplex PCR in Detecting the Causative Pathogens for Pediatric Febrile Neutropenia
- Place of Death of Pediatric Cancer Patients in a Single Institute during 7 Years
- Post-ischemic Administration of Vascular Endothelial Growth Factor Inhibitor in a Rat Model of Cerebral Venous Infarction
- Rapid Progression of Neuromuscular Disorder Related Cardiomyopathy in a Young Patient
- Molecular characterization of an X(p21.2;q28) chromosomal inversion in a Duchenne muscular dystrophy patient with mental retardation reveals a novel long non-coding gene on Xq28